Α rare case of myopathy, lactic acidosis, and severe rhabdomyolysis, due to a homozygous mutation of the ferredoxin-2 (FDX2) gene.
FDX2
children
ferredoxin
lactic acidosis
mitochondrial myopathy
rhabdomyolysis
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
12 2023
12 2023
Historique:
revised:
26
07
2023
received:
09
06
2023
accepted:
29
07
2023
medline:
14
11
2023
pubmed:
11
8
2023
entrez:
11
8
2023
Statut:
ppublish
Résumé
Mitochondrial myopathy is a severe metabolic myopathy related to nuclear or mitochondrial DNA dysfunction. We present a rare case of mitochondrial myopathy, presented with multiple episodes of proximal muscle weakness, lactic acidosis, and severe rhabdomyolysis (CPK 319,990 U/L, lactic acid 22.31 mmol/L, and GFR 3.82 mL/min/1.73m
Identifiants
pubmed: 37565517
doi: 10.1002/ajmg.a.63368
doi:
Substances chimiques
Ferredoxins
0
Lactic Acid
33X04XA5AT
MSTO1 protein, human
0
Cytoskeletal Proteins
0
Cell Cycle Proteins
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
2843-2849Informations de copyright
© 2023 Wiley Periodicals LLC.
Références
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